title: KLF1 gene mutations in Chinese adults with increased fetal hemoglobin.
abstract: We investigated the Krüppel-like factor 1 (KLF1) gene mutations in Chinese adults with increased Hb F levels (>1.5%) referred to our laboratory for thalassemia screening. Functionally effective KLF1 mutations were identified in five out of 140 samples with an elevated Hb F (1.9-11.4%). Only two different KLF1 mutations were detected. Functional KLF1 mutations were not identified in the matched cohort of 110 samples with normal Hb F values (<1.0%). The KLF1 mutations could be one of the causes of hereditary persistence of fetal hemoglobin (HPFH) in regions where thalassemias are common.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical College , Guangzhou, Guangdong, People's Republic of China.
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D009154:Mutation; D013789:Thalassemia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D051741:Kruppel-Like Transcription Factors; C080774:erythroid Kruppel-like factor; D005319:Fetal Hemoglobin